Reprogramming of a human induced pluripotent stem cell (iPSC) line (IBMSi012-A) from an early-onset Parkinson's disease patient harboring a homozygous p.D331Y mutation in the PLA2G6 gene
Summary
A recessive mutation in PLA2G6, which is known to cause a heterogeneous neurodegenerative clinical spectrum, has recently been shown to be responsible for autosomal-recessive familial forms of Parkinson's disease (PD). Here, we generated induced pluripotent stem cells (iPSCs) from the peripheral blood mononuclear cells of a female patient with a homozygous PLA2G6 c.991G > T (p.D331Y) mutation by using the Sendai-virus delivery system. The resulting iPSCs showed pluripotency confirmed by immunofluorescent staining for pluripotency markers and differentiated into the 3 germ layers in vivo. This cellular model will provide a good resource for further pathophysiological studies of PD. Copyright © 2019. Published by Elsevier B.V.
| Authors | Cheng YC, Lin HI, Syu SH, Lu HE, Huang CY, Lin CH, Hsieh PCH |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2019 May;37:101432 |
| PubMed | 30978640 |
| DOI | 10.1016/j.scr.2019.101432 |